Article
[Advances in the diagnosis and treatment of porphyria-related hepatic manifestations].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology - 20 Jun 2022
Li J W, Zhang C, Wu C, Zhao H
Abstract excerpt
Porphyria is a disease caused by defects in the activity of any of the eight enzymes required for the heme synthesis pathway. Most of these are genetic diseases, and the main clinical symptoms are abdominal pain, neuropsychiatric symptoms and skin lesions. Detection of high levels of porphyrin and/or its precursors in blood, urine and feces can be used as diagnostic clues, and known genetic mutations can confirm...
Topics
- Humans
- Liver Diseases
- Mutation
- Porphyrias
- Porphyrins